ClinVar Miner

Variants in gene CDKN2A

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Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign association risk factor not provided total
139 105 822 430 43 1 18 27 1330

Condition and significance breakdown #

Total conditions: 26
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Condition pathogenic likely pathogenic uncertain significance likely benign benign association risk factor not provided total
Familial melanoma 100 34 546 233 14 0 0 0 923
Hereditary cancer-predisposing syndrome 67 57 538 253 12 0 0 0 864
not provided 25 29 167 55 22 0 0 11 288
not specified 0 0 55 59 20 0 0 12 127
Melanoma-pancreatic cancer syndrome 19 23 44 34 14 0 0 1 120
Melanoma and neural system tumor syndrome 13 17 81 0 0 0 0 0 111
Melanoma-pancreatic cancer syndrome; Melanoma, cutaneous malignant, susceptibility to, 2; Melanoma and neural system tumor syndrome 5 5 23 3 0 0 0 0 36
CDKN2A-related disorder 4 3 10 18 0 0 0 0 35
Melanoma, cutaneous malignant, susceptibility to, 2 4 1 5 0 5 0 18 0 30
Squamous cell lung carcinoma 0 3 3 0 0 0 0 0 6
Acute lymphoid leukemia 0 2 2 0 0 0 0 0 4
Li-Fraumeni syndrome; Familial pancreatic carcinoma 0 0 1 1 2 0 0 0 4
Lip and oral cavity carcinoma 2 1 0 0 0 0 0 0 3
Melanoma-pancreatic cancer syndrome; Melanoma and neural system tumor syndrome 0 0 0 0 0 0 0 3 3
Familial pancreatic carcinoma 0 2 0 0 0 0 0 0 2
Hereditary cancer 0 0 2 0 0 0 0 0 2
Li-Fraumeni syndrome 0 0 1 0 1 0 0 0 2
Maffucci syndrome 0 0 2 0 0 0 0 0 2
Malignant tumor of urinary bladder 2 0 0 0 0 0 0 0 2
Melanoma 1 0 1 0 0 0 0 0 2
Ovarian cancer 0 1 0 0 1 0 0 0 2
Atypical endometrial hyperplasia 0 0 0 0 0 1 0 0 1
Gastric cancer 1 0 0 0 0 0 0 0 1
Hepatocellular carcinoma 0 0 0 0 1 0 0 0 1
Osteoblastic osteosarcoma 0 0 1 0 0 0 0 0 1
Retinoblastoma 0 0 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 69
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign association risk factor not provided total
Labcorp Genetics (formerly Invitae), Labcorp 99 31 546 233 14 0 0 0 923
Ambry Genetics 62 49 460 209 5 0 0 0 785
Color Diagnostics, LLC DBA Color Health 26 15 172 93 10 0 0 0 316
GeneDx 26 20 135 59 19 0 0 0 259
Baylor Genetics 13 17 80 0 0 0 0 0 110
Quest Diagnostics Nichols Institute San Juan Capistrano 8 4 37 9 16 0 0 0 74
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 10 7 37 10 7 0 0 0 71
PreventionGenetics, part of Exact Sciences 4 4 14 23 5 0 0 0 50
Counsyl 3 3 20 19 4 0 0 0 49
Sema4, Sema4 1 4 21 16 6 0 0 0 48
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 1 0 17 27 2 0 0 0 47
Myriad Genetics, Inc. 6 12 16 5 7 0 0 0 46
Mendelics 1 2 17 16 4 0 0 0 40
Department of Pathology and Laboratory Medicine, Sinai Health System 7 10 14 3 4 0 0 0 38
Fulgent Genetics, Fulgent Genetics 4 3 21 2 0 0 0 0 30
CeGaT Center for Human Genetics Tuebingen 3 1 4 11 3 0 0 0 22
OMIM 3 0 0 0 0 0 18 0 19
Breakthrough Genomics, Breakthrough Genomics 0 0 0 6 7 0 0 0 13
ITMI 0 0 0 0 0 0 0 12 12
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 1 0 11 0 0 0 0 0 12
MutSpliceDB: a database of splice sites variants effects on splicing, NIH 0 0 0 0 0 0 0 10 10
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 0 0 7 0 2 0 0 0 9
Clinical Genetics Laboratory, Skane University Hospital Lund 4 3 2 0 0 0 0 0 9
Genetic Services Laboratory, University of Chicago 0 1 4 1 1 0 0 0 7
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 1 2 2 2 0 0 0 7
Revvity Omics, Revvity 2 2 3 0 0 0 0 0 7
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 0 5 0 1 0 0 0 6
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 1 0 0 2 3 0 0 0 6
True Health Diagnostics 0 0 2 2 2 0 0 0 6
Department of Molecular Diagnostics, Institute of Oncology Ljubljana 5 1 0 0 0 0 0 0 6
Faculté Pluridciplinaire Nador, Université Mohamed Premier 0 3 3 0 0 0 0 0 6
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 0 0 1 6 0 0 0 6
MGZ Medical Genetics Center 3 1 0 0 0 0 0 0 4
Eurofins Ntd Llc (ga) 2 0 0 1 1 0 0 0 4
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 1 0 0 2 1 0 0 0 4
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 2 2 0 0 0 4
Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute 0 0 0 1 3 0 0 0 4
Genomic Diagnostics Laboratory, National Institute of Medical Genomics 0 2 2 0 0 0 0 0 4
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 0 4 4
University of Washington Department of Laboratory Medicine, University of Washington 1 0 1 1 0 0 0 0 3
Institute of Medical Sciences, Banaras Hindu University 2 1 0 0 0 0 0 0 3
AiLife Diagnostics, AiLife Diagnostics 0 3 0 0 0 0 0 0 3
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 1 0 1 0 0 0 2
Illumina Laboratory Services, Illumina 2 0 0 0 0 0 0 0 2
GeneKor MSA 0 0 2 0 0 0 0 0 2
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine 0 0 2 0 0 0 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 1 0 0 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 1 1 0 0 0 0 0 0 2
Department of Pediatrics, Memorial Sloan Kettering Cancer Center 1 1 0 0 0 0 0 0 2
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 2 0 0 0 0 2
Molecular Diagnostics Laboratory, Catalan Institute of Oncology 1 0 1 0 0 0 0 0 2
Laboratory of Molecular Epidemiology of Birth Defects, West China Second University Hospital, Sichuan University 0 1 0 0 1 0 0 0 2
Laboratory of Urology, Hospital Clinic de Barcelona 2 0 0 0 0 0 0 0 2
Center for Human Genetics, Inc, Center for Human Genetics, Inc 1 0 0 0 0 0 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 1 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 0 0 0 0 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 0 1 0 0 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 1 0 0 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 0 0 1 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 0 0 1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 0 1 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 0 0 1 0 0 0 1
Laboratory for Genotyping Development, RIKEN 1 0 0 0 0 0 0 0 1
Medical Genetics, Medical University Pleven 1 0 0 0 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 0 0 0 1
Martignetti Lab, Icahn School of Medicine at Mount Sinai 0 0 0 0 0 1 0 0 1
Department of Dermatology, Medical University of Vienna 1 0 0 0 0 0 0 0 1
Genetics Department, Catlab 0 1 0 0 0 0 0 0 1

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